Saya harap tulisan ini dapat menamba H wawasan pembaca,sekaligus mencegah kelainan menjadi anomali yang sangat parah seperti yang dilaporkan oleh sejawat dari Amerika Serikat. Juni 2011 Dr Iwan suwandy, MHA ENGLISH VERSION: Neurofibromatosis is a disorder (anomaly or Osis) Medical from the growing tissue (fibro) nerve (neuro) new (neoplasms or tumors) are abnormal, though it may be benign, but malignant demaged caused the body and face posture ‘s demage .Without view the patients directly, you definitely will not be imaging how the appearance of the patient, for a light I’ve ever seen as the body with swelling of skin tissue that is very much like a like a tree with hanging fruit, but in extreme cases look like a human monster, the case This new reported by the physician experts tumor (Oncology) from the Hospital (Hospital) in the United States, there are two reported cases.Because of the tumor generating nature of the disorder and its involvement of the nervous system and also because of early onset macrocephaly in the pediatric population, there is often an increased chance of development of epilepsy in those affected.Neurofibromatosis also increases the risk of leukemia particularly in children; Children with NF-1 have 200 to 500 times the normal risk of developing leukemia compared to the general population.If anyone sees a case like this in his home environment, I hope to help by submitting photos of patients with a short history I hope this paper, which is part of my essay book entitled “KNOW AND OVERCOMING MEDICAL ANOMALY” SHOULD, LIKE THIS CASE DOES NOT NEED TO HAPPEN, IF PEOPLE KNOW PERKEMABNAGN DISEASE (PAOGENESIS) MEDICAL AND EFFORT THAT CAN BE EXECUTED.I hope this article can menambas insightful readers, and prevent the disorder becomes severe anomalies as reported by colleagues from the United States. June 2011 Dr Iwan suwandy, MHA Neurofibromatosis (commonly abbreviated NF; neurofibromatosis type 1 is also known as von Recklinghausen disease) is a genetically-inherited disorder in which the nerve tissue grows tumors (i.e., neurofibromas) that may be benign or may cause serious damage by compressing nerves and other tissues.One must keep in mind, however, that neurofibromatosis can occur in or affect any of the organ systems, whether that entails simply compressing them (from tumor growth) or in fact altering the organs in some fundamental way.
Morbidity is often a result of plexiform neuromas, optic gliomas, or acoustic neuromas, but mortality can also be associated with malignant transformation of the neuromas, such as neurofibrosarcomas in patients with NF, particularly NF-1, however severe retardation is not part of the syndrome.
“PGD has about 95-98% accuracy but requires that the partner with NF2 have a recognizeable genetic mutation, which is only the case for about 60% of people with a clinical diagnosis of NF2.
Having the initial genetic testing to determine if the mutation is recognizeable takes approximately 6 months, and then preparing the probes for the PDG testing takes approximately another 6 months.” In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease.
It occurs following the mutation of neurofibromin on chromosome 17q11.2. Neurofibromin is a tumor suppressor gene whose function is to inhibit the p21 ras oncoprotein.
In absence of this tumor suppressor’s inhibitory control on the ras oncoprotein, cellular proliferation is erratic and uncontrolled, resulting in unbalanced cellular proliferation and tumor development.